PRIMARY IMMUNODEFICIENCIES TESTING REQUISITION

Transcription

1 MOLECULAR GENETICS LABORATORY For courier service and/or inquiries, please contact Fax: Shipping Address: 3333 Burnet Avenue, Room R1042 Cincinnati, OH PRIMARY IMMUNODEFICIENCIES TESTING REQUISITION All Information Must Be Completed Before Sample Can Be Processed PATIENT INFORMATION Patient Name:,, Last First MI Home Phone: MR# Date of Birth / / Gender: Male Female ETHNIC/RACIAL BACKGROUND (Choose All) European American (White) Native American or Alaskan Pacific Islander African-American (Black) Asian-American Ashkenazi Jewish ancestry Latino-Hispanic (specify country/region of origin) Other (specify country/region of origin) BILLING INFORMATION (Choose ONE method of payment) o REFERRING INSTITUTION Institution: City/State/Zip: Accounts Payable Contact Name: Phone: Fax: o COMMERCIAL INSURANCE* Insurance can only be billed if requested at the time of service. Policy Holder Name: Gender: Date of Birth / / Authorization Number: Insurance ID Number: Insurance Name: Insurance Address: City/State/Zip: Insurance Phone Number: * PLEASE NOTE: We will not bill Medicaid, Medicaid HMO, or Medicare except for the following: CCHMC Patients, CCHMC Providers, or Designated Regional Counties. If you have questions, please call for complete details. SAMPLE/SPECIMEN INFORMATION Has patient received a bone marrow transplant? Yes No Note: For post-transplant patients, we accept pre-transplant samples or posttransplant skin fibroblasts ONLY (blood, saliva, and cytobrushes are not accepted). Culturing of skin fibroblasts is done at an additional charge. SPECIMEN TYPE: Amniotic fluid Blood Cytobrushes Cord blood CVS Bone marrow Saliva Tissue (specify): Specimen Date: / / Time: Specimen Amount: Each test requires 3 ml of whole blood in EDTA tube. Please call before sending alternate tissue samples, and for free cytobrush or saliva collection kits. DRAWN BY: *Phlebotomist must initial tube of specimen to confirm sample identity REFERRING PHYSICIAN Physician Name (print): Phone: ( ) Fax: ( ) Genetic Counselor/Lab Contact Name: Phone: ( ) Fax: ( ) Date: / / Referring Physician Signature (REQUIRED) Patient signed completed ABN Medical Necessity Regulations: At the government s request, the Molecular Genetics Laboratories would like to remind all physicians that when ordering tests that will be paid under federal health care programs, including Medicare and Medicaid programs, that these programs will pay only for those tests the relevant program deems to be (1) included as covered services, (2) reasonable, (3) medically necessary for the treatment and diagnosis of the patient, and (4) not for screening purposes.

2 Patient Name: Date of Birth: INDICATIONS/DIAGNOSIS/ICD-9 CODE Reason for Testing: o Mutation detection in suspected affected patient o Carrier testing o Prenatal diagnosis (by previous arrangement only) TEST(S) REQUESTED Primary Immunodeficiency (Comprehensive testing) Immunology Exome 351 gene panel utilizing Whole Exome Sequencing (WES) technology* Reflex to deletion/duplication of single gene(s) (specify): *See page 5 for comprehensive gene list Autoimmune lymphoproliferative syndrome Autoimmune Lymphoproliferative Syndrome (ALPS) Panel by next generation sequencing (NGS) (CASP8, CASP10, FADD, FAS, FASLG, ITK, KRAS, MAGT1, NRAS) Reflex to deletion/duplication of single gene(s) (specify): o FAS (TNFRSF6) Reflex to deletion/duplication of FAS (TNFRSF6) o FASLG (TNFSF6) Reflex to deletion/duplication of FASLG (TNFSF6) o CASP10 Reflex to deletion/duplication of CASP10 o Somatic FAS sequence analysis of sorted double-negative T cell (DNTC) (You MUST call in advance for specimen requirements and to schedule this test) Bone marrow failure syndromes o Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) (AP3B1, BRCA2 (FANCD1), BRIP1 (FANCJ), CSF3R, CXCR4, DKC1, ELANE, ERCC4 (FANCQ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2 (ROBLD3), LYST, MPL, NHP2 (NOLA2), NOP10 (NOLA3), PALB2 (FANCN), RAB27A, RAC2, RAD51C (FANCO), RBM8A, RMRP, RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RTEL1, SBDS, SLC37A4, SLX4 (FANCP), SRP72, TAZ, TERC (htr), TERT, TINF2, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53 (TCAB1, WDR79)) o Shwachman Diamond syndrome (SBDS) Chromosome breakage syndrome panel (ATM, BLM, LIG4, NBN, NHEJ1) Reflex to deletion/duplication of single gene(s) (specify): Diamond-Blackfan anemia panel (GATA1, RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26) See page 5 for additional deletion/duplication information Dyskeratosis congenita Panel (DKC1, NHP2 (NOLA2), NOP10 (NOLA3), RTEL1, TERC (htr), TERT, TINF2, WRAP53 (WDR79, TCAB1)) Reflex to deletion/duplication of single gene(s) (specify): Familial hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis (HLH) Panel (AP3B1, BLOC1S6, CD27, GATA2, ITK, LYST, MAGT1, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D (MUNC13-4), XIAP (BIRC4)) Reflex to deletion/duplication of single gene(s) (specify): If inadequate DNA is present, we will prioritize testing according to our FHL testing algorithm, unless you indicate a different order of prioritization below. UNC13D (MUNC13-4) Reflex to deletion/duplication of UNC13D (MUNC13-4) PRF1 Reflex to deletion/duplication of PRF1 RAB27A (Griscelli syndrome) Reflex to deletion/duplication of RAB27A STXBP2 Reflex to deletion/duplication of STXBP2 STX11 Reflex to deletion/duplication of STX11 Fanconi anemia Fanconi Anemia Panel by next-generation sequencing (NGS) (BRCA2 (FANCD1), BRIP1 (FANCJ), ERCC4 (FANCQ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2 (FANCN), RAD51C (FANCO), SLX4 (FANCP)) Reflex to deletion/duplication of single gene(s) (specify): o FANCA Reflex to deletion/duplication of FANCA o FANCC Reflex to deletion/duplication of FANCC o FANCC c.456+4a>t (IVS4+4 A>T) [common Ashkenazi mutation] only o FANCG Reflex to deletion/duplication of FANCG Lymphoproliferative disorders (Including EBV-Related) o SH2D1A Reflex to deletion/duplication of SH2D1A o XIAP (BIRC4) Reflex to deletion/duplication of XIAP (BIRC4) o ITK Reflex to deletion/duplication of ITK o MAGT1 Reflex to deletion/duplication of MAGT1

3 Patient Name: Date of Birth: TEST(S) REQUESTED, CONTINUED Severe Combined Immunodeficiencies Severe combined immunodeficiency panel by next-generation sequencing (NGS) (ADA, CD3D, CD3E, DCLRE1C, FOXN1 (WHN), IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70) o X-linked severe combined immunodeficiency (IL2RG) Reflex to deletion/duplication of IL2RG Severe congenital neutropenia Inherited neutropenia panel by next-generation sequencing (NGS) (AP3B1, CSF3R, CXCR4, ELANE (ELA2), G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2 (ROBLD3), LYST, RAB27A, RAC2, SBDS, SLC37A4, TAZ, USB1, VPS13B, VPS45, WAS, WIPF1) o ELANE (ELA2) Reflex to deletion/duplication of ELANE (ELA2) o HAX1 Reflex to deletion/duplication of HAX1 o WAS (males only) Reflex to deletion/duplication of WAS See page 5 for additional deletion/duplication information Note: Single gene sequencing is available for all genes listed in the next-generation panels. Other Primary Immunodeficiencies o IPEX syndrome (FOXP3) Reflex to deletion/duplication of FOXP3 o Wiskott-Aldrich syndrome (WAS) Reflex to deletion/duplication of WAS o X-linked hyper IgM immunodeficiency (CD40LG) Reflex to deletion/duplication of CD40LG Rare Immunodeficiencies o CTLA4 Reflex to deletion/duplication of CTLA4 o GATA2 Reflex to deletion/duplication of GATA2 o LRBA Reflex to deletion/duplication of LRBA o PIK3CD Reflex to deletion/duplication of PIK3CD o STAT3 Reflex to deletion/duplication of STAT3 Targeted (family specific) mutation analysis for gene Proband s name Proband s DOB Proband s mutation Please call to discuss any family-specific mutation analysis with genetic counselor prior to shipment. CUSTOM GENE SEQUENCING Gene(s) to be sequenced (specify): Only genes with clear published functional relationship to rare diseases are accepted. Suspected syndrome/ condition: Please choose one of the following: o Full gene(s) sequencing o Full gene(s) sequencing with reflex to deletion and duplication analysis, if indicated (please see list of genes available for del/dup at Familial mutation analysis Proband s name: Proband s DOB: Proband s mutation: Patient s relation to proband: DELETION AND DUPLICATION ASSAY Gene(s) to be analyzed (specify): Please see list of available genes at: Suspected syndrome/ condition: Please choose one of the following: o Deletion and duplication analysis of gene(s) specified above o Deletion and duplication analysis of gene(s) specified above with reflex to sequencing, if indicated Analysis of gene(s) specified above from previously analyzed deletion and duplication Familial deletion analysis Proband s name: Proband s DOB: Proband s mutation: Patient s relation to proband:

4 Patient Name: Date of Birth: IMMUNE DEFICIENCIES, AUTOIMMUNE DISORDERS AND BONE MARROW FAILURE SYNDROMES Clinical History is Required for all NGS Panels CLINICAL HISTORY Has patient received a bone marrow transplant? Yes No If yes, date of bone marrow transplant Percent engraftment General Acute liver failure Fever(s) Failure to thrive (Hepato)splenomegaly Lethargy Respiratory insufficiency/failure Sudden unexplained coma/death Age at diagnosis Head and Neck Abnormal CT/MRI of brain; specify Dysmorphic facies Enlarged lymph nodes Microcephaly Oral leukoplakia Small lymph nodes and/or tonsils Thymic hypoplasia Skin Alopecia Eczema Hypopigmentation/ hyperpigmentation Rash/dermatitis Telangiectasia of eyes or skin Dysplastic nails Other skin lesions; specify Hematologic History Bone marrow failure Cytopenias (2 of 3 cell lineages) Leukopenia/neutropenia Red cell anemia Thrombocytopenia/small platelets Oncologic History Lymphoma; specify type Myelodysplasia/AML Other leukemia; specify type Recurrent primary tumors; specify types Solid tumor; specify type Other; specify Infectious Disease History Recurrent, unusual or difficult to treat infections viral bacterial fungal Recurrent pneumonia, ear infections or sinusitis Recurrent deep abscesses of the organs or skin Multiple courses of antibiotics or IV antibiotics necessary to clear infections Other; specify Laboratory findings Anemia Decreased telomere length Neutropenia/leukopenia Thrombocytopenia Abnormal ALPS panel Abnormal mitogen stimulation Abnormal lymphocyte subsets Abnormal TREC assay Abnormal B cell function; specify Abnormal T cell function; specify Low or absent NK function Complementation group correction (specify) Increased chromosome breakage ferritin soluble IL2Rα triglycerides and/or fibrinogens Abnormal protein assay by flow cytometry; specify Other; specify Congenital abnormalities/malformations/dysmorphic features (Please specify) Other Symptoms (Please specify) Related disease history of other family members (Please specify)

5 ADDITIONAL INFORMATION IMMUNOLOGY EXOME PANEL GENES TESTED ACP5 ACTB ADA ADA2 ADAMTS13 ADAR AICDA AIRE AK2 AP3B1 APOL1 ATM BLM BLNK BLOC1S3 BLOC1S6 BRCA2 BRIP1 BTK C1QA C1QB C1QC C1S C2 C3 C4BPA C5 C6 C7 C8A C8B C8G C9 CARD11 CARD14 CARD9 CARMIL2 CASP10 CASP8 CAVIN1 CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD46 CD59 CD70 CD79A CD79B CD81 CD8A CDCA7 CEBPE CFB CFD CFH CFHR1 CFHR3 CFHR5 CFI CFP CHD7 CIITA CLEC7A CLPB COG6 COLEC11 CORO1A CR2 CREBBP CSF3R CTC1 CTLA4 CTPS1 CTSC CXCR4 CYBA CYBB DCLRE1C DGKE DHFR DKC1 DNAJC21 DNMT3B DOCK8 DTNBP1 ELANE EPG5 ERCC2 ERCC3 ERCC4 ERCC6L2 ETV6 F11 F13A1 F13B F5 F7 F8 F9 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FCN3 FERMT3 FGA FGB FOXN1 FOXP3 FPR1 G6PC G6PC3 G6PD GATA1 GATA2 GFI1 GP1BA GP1BB GP9 GTF2H5 HAX1 HELLS HPS1 HPS3 HPS4 HPS5 HPS6 ICOS IFIH1 IFNGR1 IFNGR2 IGLL1 IKBKB IKZF1 IL10 IL10RA IL10RB IL12B IL12RB1 IL17F IL17RA IL1RN IL2 IL21R IL2RA IL2RG IL36RN IL7R INSR IRAK4 IRF8 ISG15 ITCH ITGAM ITGB2 ITK JAGN1 JAK2 JAK3 KMT2D KRAS LAMTOR2 LCK LIG1 LIG4 LPIN2 LRBA LRRC8A LYST MAGT1 MALT1 MAN2B1 MANBA MASP1 MASP2 MBL2 MC2R MCM4 MEFV MLPH MPL MPO MRE11 MS4A1 MTHFD1 MVK MYD88 MYH9 MYO5A MYSM1 NBN NCF2 NCF4 NCSTN NFKB1 NFKB2 NFKBIA NHEJ1 NHP2 NKX2-5 NLRC4 NLRP12 NLRP3 NOD2 NOP10 NRAS ORAI1 PALB2 PARN PCCA PCCB PEPD PGM3 PI4KA PIGA PIK3CD PIK3R1 PLCG2 PLG PMM2 PNP POLE PRF1 PRKCD PRKDC PROC PROS1 PSENEN PSMB8 PSTPIP1 PTPRC RAB27A RAC2 RAD50 RAD51C RAG1 RAG2 RBCK1 RBM8A RFX5 RFXANK RFXAP RHOH RNASEH2A RNASEH2B RNASEH2C RNF168 RPL11 RPL15 RPL26 RPL35A RPL36 RPL5 RPS10 RPS15 RPS15A RPS17 RPS19 RPS24 RPS26 RPS27A RPS28 RPS29 RPS7 RPSA RTEL1 RUNX1 SAMHD1 SBDS SEMA3E SH2D1A SH3BP2 SKIV2L SLC29A3 SLC35A1 SLC35C1 SLC37A4 SLC39A4 SLC46A1 SLC7A7 SLX4 SMARCAL1 SP110 SPINK5 SRP72 STAT1 STAT2 STAT3 STAT5B STIM1 STK4 STX11 STXBP2 TAP1 TAP2 TAPBP TAZ TBK1 TBX1 TCIRG1 TCN2 TERC TERT THBD TICAM1 TINF2 TLR3 TMC6 TMC8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFSF12 TRADD TRAF3 TRAF3IP2 TREX1 TRNT1 TTC37 TTC7A TYK2 UNC119 UNC13D UNG USB1 VPS13B VPS45 WAS WDR1 WIPF1 WRAP53 XIAP XK ZAP70 ZBTB24 Deletion/Duplication analysis is currently unavailable for the following genes: ACP5, ACTB, ADA, ADAR, APOL1, C8G, CARMIL2, CAVIN1, CD46, CD70, CFH, CFHR1, CFHR3, CFHR5, CLPB, CORO1A, CTC1, CTPS1, DCLRE1C, DHFR, DNAJC21, EPG5, ERCC6L2, ETV6, FANCD2, FERMT3, GTF2H5, HELLS, IFIH1, IGLL1, IKBKB, IL2, ITGAM, JAGN1, KMT2D, MC2R, MRE11, MYSM1, NCSTN, NFKB1, NFKB2, NLRC4, PARN, PEPD, PGM3, PI4KA, PIGA, POLE, PRKCD, PROS1, PSENEN, RPL15, RPL36, RPS15, RPS15A, RPS17, RPS28, RPS29, RPSA, RUNX1, SBDS, SEMA3E, SKIV2L, SLC29A3, SLC39A4, STAT2, STAT5B, TNFRSF4, TNFSF12, TRADD, TRAF3IP2, TRNT1, WDR